ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.556A>G (p.Met186Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004629742 SCV005125716 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.91A>G (p.M31V) alteration is located in exon 2 (coding exon 1) of the GLIS3 gene. This alteration results from a A to G substitution at nucleotide position 91, causing the methionine (M) at amino acid position 31 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040731 SCV005677459 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2024-05-31 criteria provided, single submitter clinical testing

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